| ncRNA Symbol: | SNTA1 |
| Full Name: | syntrophin alpha 1 |
| Category: | mRNA |
| Synonyms: | LQT12|SNT1|TACIP1|dJ1187J4.5 |
| Chromosome: | chr20 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 33407955 | End Site(bp): | 33443892 |
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| Gene Summary: | Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013] |
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